Oral administration of Allopurinol (Zyloric®) for 12 months without exceeding 400 mg / day in children and 900 mg / day in adults, with dosage adjustment in case of renal failure

Adenylosuccinate Lyase Deficiency

Allopurinol

LA PITIE-SALPETRIERE Hospital, AP-HP

Department of Pediatry. Reference centre of Hereditary diseases of the metabolism of child and adult. Necker - Enfants malades Hospital

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

Evaluation of a Treatment With Allopurinol on Autistic Disorders and Epilepsy in Adenylosuccinate Lyase Deficiency (ADSL)

to assess Efficacy of Allopurinol (Zyloric)® treatment from Baseline : For each scale : Mean : 100 SD : 15
Adaptive behaviour composite : Range 20 to 180 -Domains scores : Range 20 to 140 -Communication : Range 20 to 140 -Daily living skills : Range 20 to 140 -Socialization : 20 to 140 -Motor skills : 20 to 140 For each scale values are considered to be better or worse outcome :High 130 to 140 -Moderately High 115 to 129 -Adequate 86 to 114 -Moderately Low 71 to 85 -Low 20 to 70 Total score is obtained by summing the subdomains scores

Clinical evolution for developmental and cognitive assessment

Clinical evaluation for autistic symptoms : scale ranges :
A : Social interactions: 0 to 30 (significative if >10)
B : Communication : 0 to 26 (significative if > 7 or 8)
C : Repetitive and restricted interests : 0 to 16 (significative if >3)
D : Developmental abnormality present before 36 months : 0 to 5 (significative if >1)
better score : 0 (non autistic) - worse score : the higher score is the worst

Clinical evaluation for autistic symptoms. Scale ranges :
A : Socialization : social interactions and communication : 0 to 20 (social interactions : 0 to 6 -communication : 0 to 14)
B : Restricted and repetitive interests : 0 to 8
Total : A+B : 0 to 28
Autism : total score>12 - Autism Spectrum Disorder : total score >8
Better score : 0 - Worse score : the highest score is the worst

Clinical evolution for behavioral disorders and adaptive functioning
Conners Scale for Parents :
- Subscales : Behavioural difficulties (items 2-8-14-19-20-27-35-39) : 0 to 24 Learning difficulties (items 10-25-31-37) : 0 to 12 Somatisation (items 32-41-43-44) : 0 to 12 Impulsivity, hyperactivity (items 4-5-11-13): 0 to 12 Anxiety (items 12-16-24-47): 0 to 12
-Hyperactivity index : sum of the items (4-7-11-13-14-25-31-33-37-38) divided by 10 : 0 to 3
Conners Scale for teachers :
- Subscales : Behavioural difficulties (items 4-5-6-10-11-12-23-27) : 0 to 24 Impulsivity, hyperactivity (items 1-2-3-8-14-15-16) : 0 to 21 Inattention, passivity (items 7-9-18-20-21-22-26-28) : 0 to 24
-Hyperactivity index (sum of the items 1-5-7-8-10-11-14-15-21-26 divided by 10) : 0 to 3
Better score : 0 - Worse score : the highest score is the worst -Hyperactivity index : Significative if> 1,5

Clinical evolution for behavioral disorders and adaptive functioning scale ranges :
Irritability : 0 to 45
Lethargy : 0 to 48
Stereotypy : 0 to 21
Hyperactivity : 0 to 48
Inappropriate speech : 0 to 12
Better score : 0 -Worse score : the highest score is the worst on each scale- there is no total score

Evolution of the quantity of urinary metabolites from Baseline

Evolution of the quantity of plasma metabolites from Baseline

at baseline, performing neurological examinations and interrogation

Assistance Publique - Hôpitaux de Paris

URC-CIC Paris Descartes Necker Cochin

Primary Central Nervous System Lymphoma

Methotrexate

Methylprednisolone

Temozolomide

Changhua Christian Hospital

China Medical University Hospital

National Cheng Kung University Hospital

Mackay Memorial Hospital

a Phase II Study in Primary Central Nervous System Lymphoma

High-Dose Methotrexate Plus Steroid Followed by Concurrent Whole Brain Chemoradiation With Temozolomide for Immunocompetent Patients With Primary Central Nervous System Lymphoma - a Phase II Study

allopurinol/seizures

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

a Phase II Study in Primary Central Nervous System Lymphoma

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